NDEL1 nudE neurodevelopment protein 1 like 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 20 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
20 |
 |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
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MGeND data only
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
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MGeND data only
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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | EOPA |
| SYNONYM | MITAP1 |
| SYNONYM | NDE1L1 |
| SYNONYM | NDE2 |
| SYNONYM | NUDEL |
| MIM | 607538 OMIM |
| HGNC | HGNC:17620 HGNC |
| Ensembl | ENSG00000166579 Ensembl |
| AllianceGenome | HGNC:17620 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000334527.12 | hg38 | chr17 | 8,435,884 | 8,468,163 | 32,280 |
| ENST00000585098.5 | hg38 | chr17 | 8,435,894 | 8,467,269 | 31,376 |
| ENST00000380025.8 | hg38 | chr17 | 8,435,900 | 8,468,160 | 32,261 |
| ENST00000402554.7 | hg38 | chr17 | 8,435,908 | 8,467,658 | 31,751 |
| ENST00000334527.12 | hg19 | chr17 | 8,339,202 | 8,371,481 | 32,280 |
| ENST00000380025.8 | hg19 | chr17 | 8,339,218 | 8,371,478 | 32,261 |
| ENST00000402554.7 | hg19 | chr17 | 8,339,226 | 8,370,976 | 31,751 |
| ENST00000585098.5 | hg19 | chr17 | 8,339,212 | 8,370,587 | 31,376 |
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